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Eran Pras, Moshe Frydman, Etgar Levy–Nissenbaum, Tengiz Bakhan, Judith Raz, Ehud I. Assia, Boleslaw Goldman, Elon Pras; A Nonsense Mutation (W9X) in CRYAA Causes Autosomal Recessive Cataract in an Inbred Jewish Persian Family. Invest. Ophthalmol. Vis. Sci. 2000;41(11):3511-3515.
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purpose. To identify the genetic defect causing autosomal recessive cataract in
two inbred families.
methods. Linkage analysis was performed with polymorphic markers close to 14
loci previously shown to be involved in autosomal dominant congenital
cataract. In one of the families a gene segregating with the disease
was analyzed by single-strand conformation polymorphism (SSCP) and
results. Three polymorphic markers close to the CRYAA gene located on chromosome 21q segregated with the disease
phenotype in one of the families, but not in the other. Sequencing of
the CRYAA in this Jewish Persian family revealed a
G-to-A substitution, resulting in the formation of a premature stop
conclusions. A nonsense mutation in the CRYAA gene causes autosomal
recessive cataract in one family. This constitutes the first
description of the molecular defect underlying nonsyndromic autosomal
recessive congenital cataract. That there was no linkage to this locus
in another family provides evidence for genetic
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